Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Urofacial (ochoa) syndrome: A literature review.

Journal of pediatric urology - 1 Apr 2021

Osorio Sebastian, Rivillas Nestor D, Martinez Jorge A

Abstract excerpt

The Urofacial or Ochoa Syndrome (UFS or UFOS) is characterized by an inverted facial expression (those affected seem crying while smiling) associated with lower urinary tract dysfunction without evident obstructive or neurological cause. It is associated with autosomal recessive inheritance mutations in the HPSE2 gene, located at 10q23-q24, and the LRGI2 gene, located in 1p13.2; however, in up to 16% of patients,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Facies
Share to Mutation

Source

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 33558177
DOI: 10.1016/j.jpurol.2021.01.017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Urofacial (ochoa) syndrome: A literature review.PMID 33558177Read ↗

Clinical and genetic characteristics for the Urofacial Syndrome (UFS).Semantic proximity Read ↗

Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.Semantic proximity Read ↗

HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.Semantic proximity Read ↗

Mutations in HPSE2 cause urofacial syndrome.Semantic proximity Read ↗

LRIG2 mutations cause urofacial syndrome.Semantic proximity Read ↗

Scintigraphy in Ochoa syndrome.Semantic proximity Read ↗

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary BladderSemantic proximity Read ↗

Mutations in HPSE2 Cause Urofacial SyndromeSemantic proximity Read ↗

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.Semantic proximity Read ↗

First HPSE2 missense mutation in urofacial syndrome.Semantic proximity Read ↗

Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.Semantic proximity Read ↗

Neurogenic defects underlie functional bladder outflow tract obstruction associated with biallelic variants in<i>LRIG2</i>Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.